Bilateral Pallidal Deep Brain Stimulation in Secondary Dystonia in Louis-Bar-Syndrome Patients – A Report of Two Cases-
Objective: Deep Brain Stimulation (DBS) is an established treatment for various movement disorders, including primary dystonia. The effect in secondary dystonia is less well studied.…Diagnosis of GLUT1 Deficiency Syndrome in Adulthood
Objective: To present a case of GLUT1 deficiency syndrome diagnosed in adulthood emphasizing the need to keep this diagnosis in differential for adult patients with…Increased Health Care Utilization in Children/Adolescents With Tourette Syndrome Treated With Dopamine D2 Receptor Antagonists: An Electronic Medical Records Database Analysis
Objective: To compare health care resource utilization (HCRU) in dopamine D2 receptor antagonist (D2RA)-exposed versus D2RA non-exposed individuals with Tourette syndrome (TS). Background: TS is…Design and Outcome Measures of BRAVE, a Phase 3 Study of Omaveloxolone in Pediatric Patients With Friedreich Ataxia
Objective: This phase 3 randomized controlled trial will assess the efficacy and safety of omaveloxolone in children aged 2 to <16 years. Background: Omaveloxolone is…The Radiographic Overlap Between Normal Pressure Hydrocephalus (NPH) and Progressive Supranuclear Palsy (PSP): When Looks Can Be Deceiving
Objective: To demonstrate the overlap on radiographic metrics between NPH and PSP. Background: The neuroradiological hallmark of NPH is non-obstructive ventriculomegaly (Evans’ index (EI) >0.3).…Analysis of the Association between SNCA Polymorphisms and the Risk of Multiple System Atrophy
Objective: To assess the impact of twenty-one single nucleotide polymorphisms (SNPs) located in different regulatory regions of the SNCA gene on the risk of developing…Developing a novel Disease-Specific iPSC Model for Studying MSA Pathogenesis
Objective: This study aims to develop a human iPSC-derived oligodendrocyte (iPSC-OL) model to investigate cell-specific disease mechanisms in MSA. Specifically, we seek to:a)Generate MSA patient-derived…Pathogenic TBK1 Mutation Associated with Multiple System Atrophy-Like Phenotype
Objective: To report a novel case of an MSA-like phenotype in a patient with a pathogenic mutation in the TBK1 gene. Background: TANK-binding kinase 1…Developing an Electronic Medical Record-Based Dystonia Tracking Tool for use in a Pediatric Hospital Setting
Objective: To develop an electronic medical record (EMR) tool for documenting and tracking dystonia severity in pediatric inpatients. Our goal was to enable easy input…Identification of Cerebrotendinous Xanthomatosis in Patients with Neurodegenerative Disorders from the Cincinnati Cohort Biomarker Program
Objective: To develop an algorithm for identifying patients with cerebrotendinous xanthomatosis (CTX) in a cohort of individuals with neurodegenerative disorders. Background: CTX is a rare…
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